Divergent phenotypes in siblings with identical novel mutations in the HNF-1Alpha gene leading to maturity onset diabetes of the young type 3

Background Maturity onset diabetes of the young (MODY) is an autosomal dominant form of non-insulin-dependent diabetes mellitus caused by mutations in at least 13 different genes. The hepatocyte nuclear factor (HNF)-1α gene is affected in the most common form (HNF1A-MODY [MODY3]). Case presentation...

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Veröffentlicht in:	BMC medical genetics 2016-01, Vol.17
Hauptverfasser:	Knebel, Birgit, Mack, Susanne, Haas, Jutta, Herman-Friede, Mona Kathrin, Lange, Simone, Schubert, Oliver, Kotzka, Jorg, Muller-Wieland, Dirk
Format:	Artikel
Sprache:	eng
Schlagworte:	Age Diabetes Families & family life Fasting Genotype & phenotype Glucose Insulin Insulin resistance Lipids Medical imaging Metabolism Mutation Rodents Siblings Ultrasonic imaging
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